Canonical Allele Identifier: CA343989201

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716408G>A (hg19) ; chr1:g.196747278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747278G>A , CM000663.2:g.196747278G>A	GRCh38
NC_000001.10:g.196716408G>A , CM000663.1:g.196716408G>A	GRCh37
NC_000001.9:g.194983031G>A	NCBI36
NG_007259.1:g.100268G>A , LRG_47:g.100268G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4689G>A
ENST00000695970.1:c.3487G>A	ENSP00000512297.1:p.Gly1163Arg
ENST00000695971.1:c.3640G>A	ENSP00000512298.1:p.Gly1214Arg
ENST00000695972.1:c.*738G>A	ENSP00000512299.1:n.*738G>A
ENST00000695973.1:c.*2025G>A	ENSP00000512300.1:n.*2025G>A
ENST00000695974.1:c.3484G>A	ENSP00000512301.1:p.Gly1162Arg
ENST00000695975.1:c.*1788G>A	ENSP00000512302.1:n.*1788G>A
ENST00000695976.1:c.3472G>A	ENSP00000512303.1:p.Gly1158Arg
ENST00000695981.1:c.3580+81G>A	ENSP00000512306.1:n.3580+81G>A
ENST00000695984.1:c.1669G>A	ENSP00000512309.1:p.Gly557Arg
ENST00000695986.1:c.*3312G>A	ENSP00000512311.1:n.*3312G>A
ENST00000695990.1:n.695G>A
ENST00000696026.1:c.*1943G>A	ENSP00000512335.1:n.*1943G>A
ENST00000696027.1:c.3655G>A	ENSP00000512336.1:p.Gly1219Arg
ENST00000696028.1:c.3589G>A	ENSP00000512337.1:p.Gly1197Arg
ENST00000696029.1:c.3655G>A	ENSP00000512338.1:p.Gly1219Arg
ENST00000696031.1:c.*3179G>A	ENSP00000512340.1:n.*3179G>A
ENST00000696032.1:c.3580+81G>A	ENSP00000512341.1:n.3580+81G>A
ENST00000696033.1:c.1160-32519G>A	ENSP00000512342.1:n.1160-32519G>A
ENST00000367429.9:c.3661G>A MANE Select	ENSP00000356399.4:p.Gly1221Arg
ENST00000367429.8:c.3661G>A	ENSP00000356399.4:p.Gly1221Arg
ENST00000466229.5:n.6759G>A
NM_000186.3:c.3661G>A , LRG_47t1:c.3661G>A	NP_000177.2:p.Gly1221Arg
XR_001737134.2:n.3847G>A
NM_000186.4:c.3661G>A MANE Select	NP_000177.2:p.Gly1221Arg